Varaico: Literature-Extracted Genetic Variants

Gene:WFS1
Variant:p.L549L
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WFS1

NM_006005.3:p.L549L

Associated Papers

Role of Mitochondrial Dynamics in Neuronal Development: Mechanism for Wolfram Syndrome.

Cagalinec M et al.

Plos Biology, 2016

Autoimmune disease in a DFNA6/14/38 family carrying a novel missense mutation in WFS1.

Hildebrand MS et al.

American Journal of Medical Genetics. Part A, 2008

[A PARK8 form of Parkinson's disease: a mutational analysis of the LRRK2 gene in Russian population].

Shadrina MI et al.

Zhurnal Nevrologii I Psikhiatrii Imeni S.s. Korsakova, 2007

Association study of sporadic Parkinson's disease genetic risk factors in patients from Russia by APEX technology.

Shadrina M et al.

Neuroscience Letters, 2006

Polymorphisms in wolframin (WFS1) gene are possibly related to increased risk for mood disorders.

Koido K et al.

The International Journal of Neuropsychopharmacology, 2005

Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease.

Cryns K et al.

Human Mutation, 2003

WFS1/wolframin mutations, Wolfram syndrome, and associated diseases.

Khanim F et al.

Human Mutation, 2001

[Genetic study of idiopathic torsion dystonia in Russia].

Dadali EL et al.

Genetika, 1996

[A new mechanism of mutation in man: expansion of trinucleotide repeats].

Illarioshkin SN et al.

Genetika, 1995

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."